Variant report

Variant	rs4704215
Chromosome Location	chr5:74709334-74709335
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10515197	0.81[CHB][hapmap];0.83[ASN][1000 genomes]
rs12656938	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12659331	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17244806	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2241402	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2303151	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2431295	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap]
rs3094244	1.00[AFR][1000 genomes]
rs3733907	0.81[CHB][hapmap];0.84[ASN][1000 genomes]
rs3756558	0.81[CHB][hapmap]
rs4432861	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4703669	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4704209	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4704216	1.00[AFR][1000 genomes]
rs4704218	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5744653	1.00[AFR][1000 genomes]
rs5744724	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs57904342	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60872847	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7717396	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7726771	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7732958	1.00[CEU][hapmap];0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882193	chr5:74656175-74917862	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv882194	chr5:74656175-74946455	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv882195	chr5:74678937-74896798	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv882196	chr5:74678937-74917862	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv882197	chr5:74692776-74946455	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74656400-74725600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:74656800-74731400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr5:74659800-74720600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr5:74660000-74722800	Weak transcription	Fetal Heart	heart
5	chr5:74667000-74723200	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr5:74670800-74709400	Weak transcription	Pancreas	Pancrea
7	chr5:74670800-74720600	Weak transcription	Right Ventricle	heart
8	chr5:74670800-74731400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:74671000-74722800	Weak transcription	Hela-S3	cervix
10	chr5:74674400-74761400	Weak transcription	Esophagus	oesophagus
11	chr5:74675400-74720800	Weak transcription	Small Intestine	intestine
12	chr5:74676200-74721000	Weak transcription	Brain Hippocampus Middle	brain
13	chr5:74677400-74722800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:74677600-74734200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:74677800-74721000	Weak transcription	NH-A	brain
16	chr5:74677800-74725000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr5:74677800-74731400	Weak transcription	Aorta	Aorta
18	chr5:74678000-74720600	Weak transcription	Colonic Mucosa	Colon
19	chr5:74678000-74730800	Weak transcription	Psoas Muscle	Psoas
20	chr5:74680600-74721000	Weak transcription	HMEC	breast
21	chr5:74680800-74722600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr5:74681000-74723200	Weak transcription	HUVEC	blood vessel
23	chr5:74681400-74718400	Weak transcription	Brain Germinal Matrix	brain
24	chr5:74681800-74720600	Weak transcription	Fetal Brain Male	brain
25	chr5:74684000-74720400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr5:74684000-74720800	Weak transcription	Thymus	Thymus
27	chr5:74684000-74731200	Weak transcription	HSMMtube	muscle
28	chr5:74685800-74711800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:74695200-74718200	Weak transcription	Colon Smooth Muscle	Colon
30	chr5:74695400-74721000	Weak transcription	Brain Anterior Caudate	brain
31	chr5:74695400-74721000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr5:74695400-74723200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr5:74695600-74721000	Weak transcription	Brain Angular Gyrus	brain
34	chr5:74696000-74715800	Weak transcription	Ovary	ovary
35	chr5:74696200-74713800	Weak transcription	Fetal Brain Female	brain
36	chr5:74697000-74714000	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr5:74697000-74720400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr5:74697200-74714000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr5:74697400-74714200	Weak transcription	Stomach Smooth Muscle	stomach
40	chr5:74697800-74710000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr5:74698000-74711200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr5:74698000-74712200	Weak transcription	Duodenum Mucosa	Duodenum
43	chr5:74698000-74714000	Weak transcription	Fetal Kidney	kidney
44	chr5:74699400-74715800	Weak transcription	Primary hematopoietic stem cells	blood
45	chr5:74699600-74710600	Weak transcription	HSMM	muscle
46	chr5:74699600-74731200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr5:74700000-74711200	Weak transcription	Placenta	Placenta
48	chr5:74700400-74710800	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr5:74702000-74721000	Weak transcription	A549	lung
50	chr5:74703800-74722600	Strong transcription	Primary monocytes fromperipheralblood	blood

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